RareTrial

Connective Tissue

Epidermolysis Bullosa

Also known as EB, butterfly skin disease, DEB, JEB

Epidermolysis bullosa is a group of rare genetic skin disorders caused by mutations in genes encoding structural proteins that keep skin layers together. The slightest friction causes painful blisters and wounds.

ORPHA:79361 ↗Gene COL7A1Gene COL17A1Gene LAMB3Gene ITGA6Gene and othersPrevalence 1-9 per 1,000,000 (Orphanet)Onset Neonatal to AdolescentGenetic (dominant or recessive depending on type)
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Patient organisations

DEBRA InternationalPatient association
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Registry: National EB Registry · Join ↗. Registries connect patients to researchers and often hear about trials first.

NORD ↗GARD ↗Orphanet ORPHA:79361 ↗

About Epidermolysis Bullosa

Epidermolysis bullosa is a group of rare genetic skin disorders caused by mutations in genes encoding structural proteins that keep skin layers together. The slightest friction causes painful blisters and wounds. The four main types are EB simplex, junctional EB, dystrophic EB (DEB), and Kindler syndrome. Dystrophic EB (COL7A1 mutations) carries the highest risk of aggressive squamous cell carcinoma and has the most active trial pipeline.

Common clinical features

Abnormal blistering of the skinSkin erosionPalmoplantar blisteringOral mucosal blistersPalmoplantar hyperkeratosisHyperkeratosisAbnormal fingernail morphologyWound healing impairment

From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.

Treatments being studied

1 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.

Phase 2Cannabidiol (Epidiolex)

Before you apply

Things trial teams commonly ask about for Epidermolysis Bullosa. Not eligibility rules; those are set by each study.

  • EB subtype (simplex, junctional, or dystrophic) and causative gene must be confirmed
  • Wound burden, body surface area affected, and EBDASI score are standard eligibility measures
  • Gene and cell therapy trials for recessive DEB are among the most active in rare disease research

Related conditions

Dermatological

Recessive Dystrophic Epidermolysis Bullosa

Dermatological

Epidermolysis bullosa acquisita

Dermatological

Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type

Dermatological

Autosomal dominant dystrophic epidermolysis bullosa, Pasini type

Dermatological

Autosomal dominant generalized dystrophic epidermolysis bullosa

Dermatological

Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form

Dermatological

Autosomal dominant generalized epidermolysis bullosa simplex, severe form

Dermatological

Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form

Dermatological

Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form

Dermatological

Autosomal recessive generalized epidermolysis bullosa simplex

Dermatological

Dystrophic epidermolysis bullosa pruriginosa

Dermatological

Epidermolysis bullosa simplex due to BP230 deficiency

Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).